1. Trisomy 21 is also known as:
A. Down syndrome
B. Klinefelter syndrome
C. Fragile X syndrome
D. Turner syndrome
2. Cleft lip occurs due to failed fusion of which embryonic structures?
A. Palate
B. Brain hemispheres
C. Limb buds
D. Neural tube
3. Spina bifida involves defective closure of the:
A. Palate
B. Chest wall
C. Spinal canal
D. Pharynx
4. Anencephaly results from a neural tube defect in which portion of the CNS?
A. Forebrain
B. Midbrain
C. Hindbrain
D. Whole brain
5. Klinefelter syndrome involves what chromosomal abnormality?
A. 47, XXY
B. 47, XXX
C. 45, X
D. 47, XYY
6. Birth defects affecting the heart are collectively termed:
A. Cardiovascular abnormalities
B. Congenital heart disease
C. Heart defects
D. All of the above
7. Trisomy 13 is associated with which multiple malformation syndrome?
A. Edwards syndrome
B. Down syndrome
C. Cri-du-chat
D. Williams syndrome
8. Cleft palate arises due to failed fusion of which structures?
A. Mandibular processes
B. Maxillary processes
C. Nasal processes
D. Palatine processes
9. Neural tube defects occur due to failed closing of the:
A. Medulla
B. Meninges
C. Neurulation
D. Neural groove
10. Clubfoot involves twisting of the foot around the:
A. Talus
B. Calcaneus
C. Tibia
D. Fibula
11. Failure of tuberous tract closure results in developmental abnormality called:
A. Exencephaly
B. Encephalocele
C. Meningocele
D. Hydranencephaly
12. Abnormalities of neural crest cell migration during embryogenesis can cause defects of the:
A. Face
B. Limbs
C. Heart
D. All of the above
13. Trisomy 18 is associated with which multiple malformation syndrome?
A. Patau syndrome
B. Edward syndrome
C. Turner syndrome
D. Klinefelter syndrome
14. A fetal alcohol syndrome involves presence of all except:
A. Growth retardation
B. Facial dysmorphism
C. Congenital heart disease
D. Osteopenia
15. Chiari malformation involves herniation of the:
A. Cerebellar tonsils
B. Occipital lobes
C. Temporal lobes
D. Parietal lobes
16. VACTERL association involves vertebral, anal, cardiac, tracheo-esophageal, renal, limb anomalies. True or false?
A. True
B. False
17. Holoprosencephaly results from failures in:
A. Prosencephalon division
B. Mesencephalon development
C. Myelencephalon development
D. Metencephalon development
18. Agenesis of the corpus callosum involves absence of the:
A. Cerebral hemispheres
B. Cerebellum
C. Brainstem
D. Corpus callosum
19. Poland syndrome involves unilateral absence of the:
A. Pectoralis major muscle
B. Deltoid muscle
C. Bicep muscle
D. All muscles of the upper limb
20. Hemifacial microsomia involves underdevelopment of which side of the face?
A. Left
B. Right
C. Both sides equally
D. Depends on cause
21. Cowden syndrome is an overgrowth disorder associated with an increased risk of what types of tumors?
A. Colon and thyroid tumors
B. Breast and thyroid tumors
C. Skin and breast tumors
D. Ovarian and colon tumors
22. Achondroplasia involves a defect in receptor for what growth factor?
A. IGF
B. FGF
C. EGF
D. BMP
23. Citrullinemia type I involves a urea cycle defect in the enzyme:
A. Argininosuccinic acid synthetase
B. Arginase
C. Ornithine transcarbamylase
D. Carbamyl phosphate synthetase
24. Cri-du-chat syndrome is associated with partial deletion of what chromosome?
A. 5
B. 13
C. 18
D. 21
25. Holoprosencephaly ranges from mild to which most severe form?
A. Alobar holoprosencephaly
B. Semilobar holoprosencephaly
C. Lobar holoprosencephaly
D. All are equally severe
26. Tetralogy of Fallot involves defects including ventricular septal defect associated with override of the aorta and right ventricular hypertrophy. True or false?
A. True
B. False
27. Prader-Willi syndrome results from deletion or dysfunction of paternal genes on what chromosome?
A. 11
B. 15
C. 18
D. 21
28. Apert syndrome involves coronal craniosynostosis associated with digit and limb defects. True or false?
A. True
B. False
29. Pfeiffer syndrome involves sawdust-like skulls associated with syndactyly. True or false?
A. True
B. False
30. Thanatophoric dysplasia involves shortening of limbs due to abnormal enchondral ossification. True or false?
A. True
B. False
31. Ellis-van Creveld syndrome involves short ribs, postaxial polydactyly and dental anomalies. True or false?
A. True
B. False
32. Cornelia de Lange syndrome is associated with distinctive facial features, upper limb anomalies and ID. True or false?
A. True
B. False
33. Charge syndrome is characterized by coloboma, heart defects, atresia of the choanae, retardation of growth and ear abnormalities. True or false?
A. True
B. False
34. Tuberous sclerosis complex involves benign tumors in multiple organs associated with seizures and ID. True or false?
A. True
B. False
35. Goldenhar syndrome presents with epibulbar dermoids, vertebral and facial asymmetry. True or false?
A. True
B. False
36. Pierre Robin sequence involves micrognathia, cleft palate and glossoptosis. True or false?
A. True
B. False
37. Marfan syndrome involves defects of connective tissue with features like long bones overgrowth and lens dislocation. True or false?
A. True
B. False
38. Trisomy 9 mosaicism manifests as multiple congenital anomalies and significant ID. True or false?
A. True
B. False
39. Hallerman-Streiff syndrome presents with bird-like facies, microphthalmia, cataracts, small jaw and sparse hair. True or false?
A. True
B. False
40. Rubinstein-Taybi syndrome is characterized by broad thumbs/halluces and distinctive facial appearance associated with broad nasal bridge and downward slanting palpebral fissures. True or false?
A. True
B. False